NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) AND Thrombophilia due to protein S deficiency, autosomal dominant
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Nov 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000755688.11
Allele description [Variation Report for NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)]
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
Condition(s)
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F-box/WD repeat-containing protein 1A isoform X1 [Macaca nemestrina]
F-box/WD repeat-containing protein 1A isoform X1 [Macaca nemestrina]gi|795630348|ref|XP_011733884.1|Protein
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PREDICTED: Falco peregrinus nuclear receptor coactivator 1 (NCOA1), transcript v...
PREDICTED: Falco peregrinus nuclear receptor coactivator 1 (NCOA1), transcript variant X8, mRNAgi|2499835188|ref|XM_055809475.1|Nucleotide
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Mus musculus serum/glucocorticoid regulated kinase 1 (Sgk1), transcript variant ...
Mus musculus serum/glucocorticoid regulated kinase 1 (Sgk1), transcript variant 5, mRNAgi|260064020|ref|NM_001161850.2|Nucleotide
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RecName: Full=Brain acid soluble protein 1; AltName: Full=22 kDa neuronal tissue...
RecName: Full=Brain acid soluble protein 1; AltName: Full=22 kDa neuronal tissue-enriched acidic protein; AltName: Full=Neuronal axonal membrane protein NAP-22gi|66773932|sp|Q91XV3.3|BASP1_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024